Hunter syndrome - ib tug tsawg caj teeb meem

Nyob rau hauv cov tshuaj, muaj ib tug xov tooj ntawm tsawg kab mob, lawv muaj xws li thiab saib xyuas syndrome (Mucopolysaccharidosis hom 2), uas, piv txwv li, tsuas hais txog 50 tus neeg mob nyob rau hauv Russia. Tus kab mob yog tshuaj ntsuam genetic thiab yog dhau los ntawm tus leej niam rau cov tub hluas. Tag nrho nws lub neej rau tus niam tej zaum yuav tsis paub hais tias yog cov cab kuj ntawm lub puas noob. Qhov ntau yam ntawm yug me nyuam ntawm tus me nyuam nrog rau cov pathology ntawm cov poj niam - 50%. Tab sis tej zaum nws yuav tshwm sim nyob (thawm) hloov nyob rau hauv lub noob ntawm lub fetus, tab sis cov niam txiv tsis muaj kev txawv txav.

Hunter syndrome, lub mechanism ntawm kev loj hlob

Nyob rau hauv tib neeg muaj yog ib txhiab txawv metabolic dab uas ua nyob rau hauv "pov tseg cov ntaub ntawv uas" yog tso zis rau sab nraum. Thaum Hunter syndrome ua txhaum pauv mucopolysaccharides (glycosaminoglycans) yuav tsis tso tawm, tab sis noog nyob rau hauv tag nrho cov cev nqaij. Qhov no yog vim lub fact tias tsis muaj enzyme iduronatsulfataza. Nws yog tseeb hais tias nyob rau hauv tej yam cov nruab nrog cev thiab tshuab tsum ua kom zoo, muaj kev ua txhaum.

Hunter syndrome, soj ntsuam daim duab

Yeej tsos mob pib tshwm tsuas yog tom qab ob peb xyoos, cov me nyuam yug los ib txwm, thiab cov niam txiv yog unaware ntawm lawv tus kab mob. Ntawm lub ntsej muag nta ua ntxhib suab, dhau lawm, ua tsis taus pa yuav nrov, thiab tus me nyuam pib muaj mob ntau zaus ua pa kab mob. Cov tsos ntawm tus tub hluas yog tias ib tug tuab daim tawv nqaij ntawm lub ntsej muag, luv luv caj dab, ib tug tsis tshua hniav, tuab daim di ncauj, tus nplaig thiab qhov ntswg. Tag nrho cov me nyuam nrog saib xyuas syndrome yog li ntawd zoo ib yam li txhua lwm yam, hais tias lawv yog npaum li cas rau cov kwv tij.

Tom qab peb los yog plaub lub xyoos qub kas yuav nyuaj mus kev, nruj ntawm cov pob qij txha ua, nws loses sib haum, yuav poob. Tag nrho skeletal system yog hloov.

Pib mob ntawm lub psyche, tus me nyuam tej zaum yuav ua resentful los yog txhoj puab heev. Ib txhia me nyuam chaw. Cov kev txawj ntse uas tus me nyuam kis tau mus rau lawv lub hnub nyoog, yog poob lawm. Nws ua tsis paub pab, tsis hais lus.

Yuav luag tag nrho cov neeg muaj feem xyuam rau lub plawv, metabolic khoom accumulates nyob rau hauv lub qub, ua rau lawv nkoog. Nyob rau hauv thaum tiav hluas, cov kev hloov yog imperceptible, thaum pib ntawm kev ua txhaum lees paub rau kev ua neeg laus.

Muaj ob hom: A saib xyuas kab mob cov tsos mob thiab B. Nyob rau hauv thawj daim ntawv no, cov neeg kawm txoj sai heev, muaj los ib tug muaj hlwb ruamqauj, thiab lub thib ob daim ntawv yog yooj yim dua thaum tus me nyuam tau txais kev cawmdim txawj ntse. Nyob ntawm seb lub hom ntawm tus kab mob lub neej expectancy ntawm cov neeg muaj peev xwm mus txog 50-60 xyoo. Txawm li cas los, nrog rau mob hnyav ntaub ntawv ntawm cov me nyuam nyob rau 8-9 xyoo.

mob ntawm tus kab mob no

Qhov zoo tshaj plaws variant nrhiav kom tau ntawm roj ntsha kab mob - genetic kev tshawb fawb ntawm cov me nyuam hauv plab. Tab sis xws li kev ntsuam xyuas yog tsis yog, yog li ntawd, cais tus pre-tsawg mob yog tsis yooj yim sua.

Nyob rau hauv cov zis ntawm cov neeg mob qhia ib tug loj npaum li cas ntawm heparan sulfate thiab dermatan.

X-ray daim duab ntawm lub skeletal system - ntau dysostosis (anomalies ntawm skeletal txoj kev loj hlob).

Hunter syndrome kev kho mob

Tshuaj rau cov kev kho mob ntawm mucopolysaccharidosis hom 2 tau tsim thiab yog cov uas ploj lawm enzyme. "Elapraza" yog hais txog ib tug txhais tau tias. Txawm li cas los, nws yog ua tau rau kom tau kev tsis yog tag nrho cov neeg mob, cov tshuaj nqi yog heev kim thiab tsuas muaj txawv teb chaws.

Kev kho mob ntawm cov me nyuam nrog saib xyuas syndrome yuav tsum tau them los ntawm lub xeev, tab sis cov tub ceev xwm tsis kam muab lawv, txij li thaum lub xyoo tau ib tus neeg yog piv rau cov nyiaj txiag rau txij nkawm ntawm tag nrho cov tsev kho mob. Tab sis cov kev kho mob ntawm cov me nyuam rau lub neej, nws yuav muab piv nrog rau cov ntshav qab zib txoj kev kho thaum ib tug neeg tas li yuav tsum tau insulin. Sawv daws yeej paub tias tsis muaj cov kua dej los yog ib tug ntshav qab zib yuav tsis ua neej nyob ntev, tib qhov teeb meem no thiab nrog rau qhov pathology. Cov niam txiv uas tseem sov ua licas tswj tau cov tshuaj (sponsors, kev siab hlub), hais tias tus me nyuam yuav tau txais zoo dua, pib taug kev los mus dua thiab ua neej nyob ib tug ntau lub neej zoo.